Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
metabolic disorder |
| gptkbp:affects |
gptkb:lysosome
|
| gptkbp:causedBy |
enzyme deficiency
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
20th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
Lysosomal storage disease
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:subspecies |
gptkb:Tay-Sachs_disease
gptkb:Niemann-Pick_disease gptkb:Fabry_disease gptkb:Gaucher_disease gptkb:Pompe_disease gptkb:Mucopolysaccharidosis |
| gptkbp:symptom |
developmental delay
neurological impairment organomegaly |
| gptkbp:treatment |
supportive care
enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:Lysosome
|
| gptkbp:bfsLayer |
6
|